4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/4592114 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|